Inmaculada Martín-Mérida

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 154 citations · Full text

Genomic Landscape of Sporadic Retinitis Pigmentosa

Inmaculada Martín-Mérida, Almudena Ávila‐Fernández, Marta Del Pozo‐Valero et al. · Ophthalmology · 2019 · 67 citations

Medicine, Genetics, Next-generation Sequencing +6

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Inmaculada Martín-Mérida, Domingo Aguilera‐Garcia, Patrícia José et al. · Investigative Ophthalmology & Visual Science · 2018 · 62 citations · Full text

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

Irene Perea‐Romero, Carlos Solarat, Fiona Blanco‐Kelly et al. · npj Genomic Medicine · 2022 · 49 citations · Full text

Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1

Marta Del Pozo‐Valero, Inmaculada Martín-Mérida, Belén Jimenez‐Rolando et al. · American Journal of Ophthalmology · 2019 · 45 citations · Full text